Muscular Dystrophy
What is Muscular Dystrophy (MD)? * Muscular dystrophy is a genetic disorder that weakens the muscles that help the body move ** MD is NOT contagious, people are just born with this problem * people with MD have wrong or missing genes which prevent them from making the proteins that they need to maintain healthy muscles Types of Muscular Dystrophy * Duchenne Muscular Dystrophy (DMD) which affects boys and causes their muscles to break down and become weaker over time * Becker Muscular Dystrophy (BMD) again affects boys and is very similar to DMD but starts much later in life * Emery-Dreifuss Muscular Dystrophy (EDMD) affects mostly boys and starts during the late childhood to early teen years * Limb-Girdle Muscular Dystrophy (LGMD) affects boys and girls equally and most start showing symptoms during early childhood or mid adulthood because this strand often progresses slowly * Facioscapulohumeral Muscular Dystrophy (FSHD) affects both girls and boys and begins during the early teen years often affecting the face and upper body * Myotonic Muscular Dystrophy (MMD) often affects teens and doesn't allow their muscles to relax * Congenital Muscular Dystrophy (CMD) starts to show signs in babies and young children occuring with both boys and girls How does Muscular Dystrophy Affect the Muscular System? * Although Muscular Dystrophy can affect several body tissues and organs, it most prominently affects the integrity of muscle fibers * The disease causes muscle degeneration, progressive weakness, fiber death, fiber branching and splitting, phagocytosis in which muscle fiber material is broken down and destroyed by scavenger cells, and, in some cases, chronic or permanent shortening of tendons and muscles * Also, overall muscle strength and tendon reflexes are usually lessened or lost due to replacement of muscle by connective tissue and fat. Signs and Symptoms * The main sign of muscular dystrophy is progressive muscle weakness * Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy * Signs and symptoms typically appear between the ages of 2 and 3, but as late as the mid adult hood, and may include: ** Frequent falls ** Difficulty getting up from a lying or sitting position ** Trouble running and jumping ** Waddling gait ** Walking on the toes ** Large calf muscles ** Muscle pain and stiffness ** Learning disabilities ** trouble breathing ** inability to smile ** trouble raising hands and arms Diagnosis * Both the individual's medical history and a complete family history should be thoroughly reviewed to determine if the muscle disease is secondary to a disease affecting other tissues or organs or is an inherited condition * It is also important to rule out any muscle weakness resulting from prior surgery, exposure to toxins, or current medications that may affect the person's functional status or rule out many acquired muscle diseases * Thorough clinical and neurological exams can rule out disorders of the central and/or peripheral nervous systems, identify any patterns of muscle weakness and atrophy, test reflex responses and coordination, and look for contractions * Tests that can be done to help determine whether a patient had muscular dystrophy or not : ** blood tests to determine a persons enzyme levels (enzymes are important because they are released into the bloodstream when muscle fibers are breaking down) and their serum creatine kinase levels (When serum creatine kinase levels are high it indicates something is causing muscle damage) ** small pieces of muscle tissue can be removed so that it can be viewed under a microscope to determine if a persons muscle tissue is breaking down, this is known as a muscle biopsy ** genetic testing can also be used to determine if someone has muscular biopsy Treatment * There is no specific treatment that can stop or reverse the progression of any form of MD * All forms of MD are genetic and cannot be prevented at this time, aside from the use of prenatal screening interventions * However, available treatments are aimed at keeping the person independent for as long as possible and prevent complications that result from weakness, reduced mobility, and cardiac and respiratory difficulties ** Treatment may involve a combination of approaches, including physical therapy, drug therapy, and surgery ** some people with MD have to have respiratory aids such as a ventilator because their lung muscles aren't strong enough on their own ** The available treatments are sometimes quite effective and can have a significant impact on life expectancy and quality of life. * some scientists are trying to create the chemicals that will fix the defective genes that lead to MD so that a person can make the correct proteins to keep their muscles strong and in good condition * other scientists are hoping to create a chemical that will act like the protein a person with MD would need Citations Mayo Clinic Staff. "Muscular Dystrophy." Coping and Support. Mayo Clinic Staff. Web. 8 Feb. 2016. . "Muscular Dystrophy." KidsHealth - the Web's Most Visited Site about Children's Health. Ed. Rupal Christine Gupta. The Nemours Foundation, 01 July 2014. Web. 08 Feb. 2016. . Newman, Tim. "Muscular Dystrophy : Latest Research." Medical News Today. MediLexicon International, 13 Jan. 2016. Web. 8 Feb. 2016. .Category:Muscular System